Etiology of intellectual disability is extremely heterogeneous. Important factors that play a role in the etiology of intellectual disability include environmental, as well genetic causes.
High genetic heterogeneity of the molecular cause of intellectual disability makes the discovery of a causative alteration extremely difficult (f. e. 20-50% cases with severe intellectual disability remain undiagnosed). Subtelomeric rearrangements are relatively frequent within the population of patients with sporadic form of intellectual disability, who additionally present with dysmorphic features (about 5% patients with intellectual disability).

Type of analysis

Molecular

Type of biological material

5 ml peripheral blood collected in the EDTA tube

Analyzed genes

Subtelomeric regions

Analysis description

Quantitative analysis (detection of duplications-deletions) of the subtelomere regions for each chromosome using MLPA method.